#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RB1CC1	9821	broad.mit.edu	37	8	53580652	53580652	+	Silent	SNP	G	G	T			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr8:53580652G>T	ENST00000025008.5	-	8	1625	c.1102C>A	c.(1102-1104)Cgg>Agg	p.R368R	RB1CC1_ENST00000539297.1_Silent_p.R368R|RB1CC1_ENST00000435644.2_Silent_p.R368R|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	368					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.R368R(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCGTAGAGCCGATCTTCAAGT	0.423																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.4																			1	Substitution - coding silent(1)	p.R368R(2)	endometrium(1)	NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1102-1104)Cgg>Agg		Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.							138.0	120.0	126.0					8																	53580652		2203	4300	6503	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	g.chr8:53580652G>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1102C>A	8.37:g.53580652G>T			Somatic				RB1CC1_uc003xrf.4_Silent_p.R368R	p.R368R	NM_014781	NP_055596	WXS	Illumina GAIIx	Phase_I	Q8TDY2	RBCC1_HUMAN			7	1660	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	368					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.1102C>A	CCDS34892.1																																																																																				0.423	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		3	76	0	0	0	1	0	3	76				
COLEC10	10584	broad.mit.edu	37	8	120114630	120114630	+	Silent	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr8:120114630A>G	ENST00000332843.2	+	4	377	c.336A>G	c.(334-336)aaA>aaG	p.K112K	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	112	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.K112K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTGGAGAAAAAGGCAAAGCAG	0.294																																						uc003yoo.3																			1	Substitution - coding silent(1)	p.K112K(2)	kidney(1)	endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(334-336)aaA>aaG		Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.							109.0	114.0	112.0					8																	120114630		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120114630A>G	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.336A>G	8.37:g.120114630A>G			Somatic					p.K112K	NM_006438	NP_006429	WXS	Illumina GAIIx	Phase_I	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		3	433	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		112			Collagen-like.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.336A>G	CCDS6327.1																																																																																				0.294	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			3	88	0	0	0	1	0	3	88				
SNTA1	6640	broad.mit.edu	37	20	32026782	32026782	+	Silent	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr20:32026782A>G	ENST00000217381.2	-	2	632	c.361T>C	c.(361-363)Ttg>Ctg	p.L121L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	121	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCAGCTGCCAATCCCTTGAAG	0.527																																						uc002wzd.1																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(361-363)Ttg>Ctg		Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.							126.0	123.0	124.0					20																	32026782		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32026782A>G	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.361T>C	20.37:g.32026782A>G			Somatic				SNTA1_uc010zuf.1_Silent_p.L121L	p.L121L	NM_003098	NP_003089	WXS	Illumina GAIIx	Phase_I	Q13424	SNTA1_HUMAN			1	633	-			121			PDZ.|PH 1.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.361T>C	CCDS13220.1																																																																																				0.527	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		32	127	0	0	0	1	0	32	127				
EPG5	57724	broad.mit.edu	37	18	43532379	43532379	+	Silent	SNP	G	G	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr18:43532379G>A	ENST00000282041.5	-	3	1273	c.1239C>T	c.(1237-1239)caC>caT	p.H413H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	413					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGCCTTGCTGGTGAATTGCTG	0.393																																						uc002lbm.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1237-1239)caC>caT		Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.							113.0	104.0	107.0					18																	43532379		1899	4133	6032	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43532379G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1239C>T	18.37:g.43532379G>A			Somatic				EPG5_uc002lbo.1_Silent_p.H413H	p.H413H	NM_020964	NP_066015	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			2	1339	-			413					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.1239C>T	CCDS11926.2																																																																																				0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		62	92	0	0	0	1	0	62	92				
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		99	116	0	0	0	1	0	99	116				
ZNF785	146540	broad.mit.edu	37	16	30594124	30594124	+	Silent	SNP	G	G	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr16:30594124G>A	ENST00000395216.2	-	3	1134	c.975C>T	c.(973-975)tcC>tcT	p.S325S	ZNF785_ENST00000470110.1_Silent_p.S310S|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGAGGAGGAGGGAAGAATAGG	0.642																																						uc002dyw.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(973-975)tcC>tcT		Homo sapiens zinc finger protein 785 (ZNF785), mRNA.							54.0	61.0	58.0					16																	30594124		2197	4300	6497	SO:0001819	synonymous_variant	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594124G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.975C>T	16.37:g.30594124G>A			Somatic				ZNF785_uc002dyu.3_Non-coding_Transcript|ZNF785_uc002dyv.2_Silent_p.S310S|ZNF785_uc010vez.2_Silent_p.S290S	p.S325S	NM_152458	NP_689671	WXS	Illumina GAIIx	Phase_I	A8K8V0	ZN785_HUMAN			2	1135	-			325					O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	c.975C>T	CCDS10685.1																																																																																				0.642	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		8	76	0	0	0	1	0	8	76				
LRRTM2	26045	broad.mit.edu	37	5	138209408	138209408	+	Missense_Mutation	SNP	A	A	G	rs371505658		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr5:138209408A>G	ENST00000274711.6	-	2	1220	c.842T>C	c.(841-843)aTa>aCa	p.I281T	LRRTM2_ENST00000523537.1_5'Flank|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000518825.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	281					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGAGGAGTATTTTAAGATT	0.438																																						uc011cyz.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16						c.(841-843)aTa>aCa		Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.		A	,THR/ILE	0,3840		0,0,1920	205.0	203.0	204.0		,842	5.3	1.0	5		204	1,8269		0,1,4134	no	intron,missense	CTNNA1,LRRTM2	NM_001903.2,NM_015564.2	,89	0,1,6054	GG,GA,AA		0.0121,0.0,0.0083	,benign	,281/517	138209408	1,12109	1920	4135	6055	SO:0001583	missense	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209408A>G	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.842T>C	5.37:g.138209408A>G	ENSP00000274711:p.Ile281Thr		Somatic				CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Missense_Mutation_p.I147T|CTNNA1_uc003ldl.3_5'Flank	p.I281T	NM_015564	NP_056379	WXS	Illumina GAIIx	Phase_I	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		1	1299	-			281					A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	c.842T>C	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.435902	0.01108	0.0	1.21E-4	ENSG00000146006	ENST00000274711	T	0.56103	0.48	5.3	5.3	0.74995	.	0.182257	0.46145	D	0.000308	T	0.20170	0.0485	N	0.01209	-0.955	0.39136	D	0.961949	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22977	-1.0201	10	0.11485	T	0.65	.	7.815	0.29254	0.8473:0.0:0.1527:0.0	.	147;281	B7Z4G4;O43300	.;LRRT2_HUMAN	T	281	ENSP00000274711:I281T	ENSP00000274711:I281T	I	-	2	0	LRRTM2	138237307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.426000	0.59882	2.227000	0.72691	0.528000	0.53228	ATA		0.438	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			8	271	0	0	0	1	0	8	271				
ASPSCR1	79058	broad.mit.edu	37	17	79952715	79952715	+	Silent	SNP	C	C	T	rs370178683	byFrequency	TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:79952715C>T	ENST00000306739.4	+	5	490	c.393C>T	c.(391-393)ccC>ccT	p.P131P	ASPSCR1_ENST00000306729.7_Silent_p.P131P|ASPSCR1_ENST00000581647.1_Silent_p.P131P|ASPSCR1_ENST00000580534.1_Silent_p.P54P	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	131					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCAGCACCCCGGCGGGGCCA	0.647			T	TFE3	alveolar soft part sarcoma								C|||	2	0.000399361	0.0	0.0	5008	,	,		15239	0.0		0.0	False		,,,				2504	0.002					uc002kcy.3				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(391-393)ccC>ccT		Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.		C		0,4406		0,0,2203	71.0	78.0	76.0		393	-3.5	0.0	17		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASPSCR1	NM_024083.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		131/554	79952715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79952715C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.393C>T	17.37:g.79952715C>T			Somatic				ASPSCR1_uc002kcx.3_Silent_p.P131P|ASPSCR1_uc021ufj.1_Silent_p.P54P|ASPSCR1_uc002kda.3_Silent_p.P54P|ASPSCR1_uc002kdb.1_Silent_p.P54P	p.P131P	NM_001251888	NP_001238817	WXS	Illumina GAIIx	Phase_I	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	490	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		131					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.393C>T	CCDS11796.1																																																																																				0.647	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		30	64	0	0	0	1	0	30	64				
DRC1	92749	broad.mit.edu	37	2	26654829	26654829	+	Silent	SNP	C	C	T	rs371207623		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr2:26654829C>T	ENST00000288710.2	+	7	917	c.843C>T	c.(841-843)tgC>tgT	p.C281C	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	281					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TCTGGGATTGCGAAGAATACA	0.512																																						uc002rhg.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						c.(841-843)tgC>tgT		Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.		C		0,4406		0,0,2203	132.0	115.0	121.0		843	-11.3	0.0	2		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC164	NM_145038.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		281/741	26654829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26654829C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.843C>T	2.37:g.26654829C>T			Somatic				CCDC164_uc010eym.1_Non-coding_Transcript	p.C281C	NM_145038	NP_659475	WXS	Illumina GAIIx	Phase_I	Q96MC2	CC164_HUMAN			6	917	+			281					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.843C>T	CCDS1723.1																																																																																				0.512	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		6	51	0	0	0	1	0	6	51				
S100A7	6278	broad.mit.edu	37	1	153430375	153430375	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:153430375A>C	ENST00000368723.3	-	3	323	c.213T>G	c.(211-213)gaT>gaG	p.D71E	S100A7_ENST00000368722.1_Missense_Mutation_p.D71E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	71	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCAGAAAAATCAATCTTCT	0.473																																						uc001fbv.1																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(211-213)gaT>gaG		Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.							106.0	95.0	99.0					1																	153430375		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	g.chr1:153430375A>C	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.213T>G	1.37:g.153430375A>C	ENSP00000357712:p.Asp71Glu		Somatic					p.D71E	NM_002963	NP_002954	WXS	Illumina GAIIx	Phase_I	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	284	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		71			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.213T>G	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	4.721	0.134140	0.09032	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.09817	2.94;2.94	2.03	-4.07	0.03975	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.01627	0.0052	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44375	-0.9332	9	0.27082	T	0.32	.	7.6646	0.28423	0.1667:0.2217:0.6116:0.0	.	71	P31151	S10A7_HUMAN	E	71	ENSP00000357712:D71E;ENSP00000357711:D71E	ENSP00000357711:D71E	D	-	3	2	S100A7	151696999	0.000000	0.05858	0.047000	0.18901	0.267000	0.26476	-3.394000	0.00486	-1.549000	0.01710	0.163000	0.16589	GAT		0.473	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		4	118	0	0	0	1	0	4	118				
TUBA3C	7278	broad.mit.edu	37	13	19751149	19751149	+	Missense_Mutation	SNP	G	G	A	rs572405672		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr13:19751149G>A	ENST00000400113.3	-	4	1078	c.974C>T	c.(973-975)cCg>cTg	p.P325L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	325					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACATCTTTCGGGACCACATC	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18321	0.0		0.0	False		,,,				2504	0.0					uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(973-975)cCg>cTg		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							159.0	131.0	141.0					13																	19751149		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751149G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.974C>T	13.37:g.19751149G>A	ENSP00000382982:p.Pro325Leu		Somatic					p.P325L	NM_006001	NP_525125	WXS	Illumina GAIIx	Phase_I	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	1079	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	325					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.974C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	11.41	1.631060	0.28978	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84370	-1.84	1.21	0.295	0.15752	.	0.000000	0.47852	U	0.000215	D	0.85173	0.5636	.	.	.	0.52099	D	0.999947	.	.	.	.	.	.	T	0.81389	-0.0955	7	0.87932	D	0	.	5.6914	0.17831	0.2073:0.0:0.7927:0.0	.	.	.	.	L	325	ENSP00000382982:P325L	ENSP00000354037:P325L	P	-	2	0	TUBA3C	18649149	1.000000	0.71417	0.967000	0.41034	0.666000	0.39218	4.955000	0.63638	0.076000	0.16826	0.184000	0.17185	CCG		0.542	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		4	164	0	0	0	1	0	4	164				
VNN2	8875	broad.mit.edu	37	6	133073823	133073823	+	Silent	SNP	G	G	A	rs141716354		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:133073823G>A	ENST00000326499.6	-	4	727	c.603C>T	c.(601-603)acC>acT	p.T201T	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.T148T|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'Flank	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	201	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCCAAATGCGGTGTTGAAAG	0.428																																						uc003qdt.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(601-603)acC>acT		Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.		A	,,	1,4405	2.1+/-5.4	0,1,2202	139.0	130.0	133.0		,603,444	-0.9	0.6	6	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	,201/521,148/468	133073823	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133073823G>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.603C>T	6.37:g.133073823G>A			Somatic				VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Silent_p.T148T	p.T201T	NM_004665	NP_004656	WXS	Illumina GAIIx	Phase_I	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	3	614	-			201			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.603C>T	CCDS5161.1																																																																																				0.428	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			27	209	0	0	0	1	0	27	209				
OR4X1	390113	broad.mit.edu	37	11	48286142	48286142	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr11:48286142G>A	ENST00000320048.1	+	1	730	c.730G>A	c.(730-732)Gtt>Att	p.V244I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCATGTCACAGTTGTCGACCT	0.517																																						uc010rht.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(730-732)Gtt>Att		Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.							162.0	147.0	152.0					11																	48286142		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286142G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.730G>A	11.37:g.48286142G>A	ENSP00000321506:p.Val244Ile		Somatic					p.V244I	NM_001004726	NP_001004726	WXS	Illumina GAIIx	Phase_I	Q8NH49	OR4X1_HUMAN			0	730	+			244					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.730G>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691719	0.30052	.	.	ENSG00000176567	ENST00000320048	T	0.00253	8.43	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	M	0.85542	2.76	0.09310	N	0.999995	D	0.76494	0.999	D	0.87578	0.998	T	0.48175	-0.9058	9	0.72032	D	0.01	.	14.3574	0.66748	0.0:0.0:1.0:0.0	.	244	Q8NH49	OR4X1_HUMAN	I	244	ENSP00000321506:V244I	ENSP00000321506:V244I	V	+	1	0	OR4X1	48242718	0.661000	0.27430	0.106000	0.21319	0.022000	0.10575	2.949000	0.49074	2.308000	0.77769	0.563000	0.77884	GTT		0.517	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		12	150	0	0	0	1	0	12	150				
JMJD1C	221037	broad.mit.edu	37	10	64973724	64973724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr10:64973724G>A	ENST00000399262.2	-	8	2421	c.2203C>T	c.(2203-2205)Cag>Tag	p.Q735*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q516*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q553*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q516*|JMJD1C_ENST00000489372.2_5'Flank	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	735					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAAGGATGCTGGCTTAGGAAA	0.418																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2203-2205)Cag>Tag		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							122.0	108.0	113.0					10																	64973724		1920	4151	6071	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973724G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2203C>T	10.37:g.64973724G>A	ENSP00000382204:p.Gln735*		Somatic				JMJD1C_uc001jml.3_Nonsense_Mutation_p.Q516*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.Q447*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.Q553*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.Q553*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Nonsense_Mutation_p.Q447*	p.Q735*	NM_032776	NP_116165	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			7	2503	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		735					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.2203C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	46	12.339076	0.99658	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	6.17	5.26	0.73747	.	0.392398	0.28933	N	0.013671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.7796	15.9972	0.80260	0.065:0.0:0.935:0.0	.	.	.	.	X	735;516;516;553	.	ENSP00000382195:Q516X	Q	-	1	0	JMJD1C	64643730	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.975000	0.70475	2.941000	0.99782	0.655000	0.94253	CAG		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		18	93	0	0	0	1	0	18	93				
ADCYAP1R1	117	broad.mit.edu	37	7	31126076	31126076	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr7:31126076T>C	ENST00000304166.4	+	10	1037	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y229H|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y250H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y250H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	250					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CGAGGGCCTGTACCTCTTCAC	0.532																																					Ovarian(44;225 1186 2158 11092)	uc003tcg.3																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(748-750)Tac>Cac		Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 1, mRNA.							228.0	173.0	192.0					7																	31126076		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126076T>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.748T>C	7.37:g.31126076T>C	ENSP00000306620:p.Tyr250His		Somatic				ADCYAP1R1_uc003tce.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tca.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.Y229H|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tcf.1_5'Flank	p.Y250H	NM_001199635	NP_001186564	WXS	Illumina GAIIx	Phase_I	P41586	PACR_HUMAN			9	1037	+			250					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.748T>C	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423216	0.83559	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.50548	1.19;1.22;0.74;0.74	5.69	5.69	0.88448	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.998;0.999;0.999	T	0.75733	-0.3214	10	0.87932	D	0	.	13.8941	0.63761	0.0:0.0:0.0:1.0	.	250;250;250;229;250	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	H	250;21;229;250;250	ENSP00000306620:Y250H;ENSP00000387335:Y229H;ENSP00000379514:Y250H;ENSP00000386395:Y250H	ENSP00000306620:Y250H	Y	+	1	0	ADCYAP1R1	31092601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.162000	0.67917	0.533000	0.62120	TAC		0.532	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		3	44	0	0	0	1	0	3	44				
RELN	5649	broad.mit.edu	37	7	103197509	103197509	+	Silent	SNP	C	C	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr7:103197509C>A	ENST00000428762.1	-	38	5871	c.5712G>T	c.(5710-5712)acG>acT	p.T1904T	RELN_ENST00000424685.2_Silent_p.T1904T|RELN_ENST00000343529.5_Silent_p.T1904T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1904					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAGTATATTCGTTGTTTGAG	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5710-5712)acG>acT		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							208.0	199.0	202.0					7																	103197509		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103197509C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5712G>T	7.37:g.103197509C>A			Somatic				RELN_uc022ajq.1_Silent_p.T1904T|RELN_uc010liz.3_Silent_p.T1904T	p.T1904T	NM_005045	NP_005036	WXS	Illumina GAIIx	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	37	5872	-			1904					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5712G>T	CCDS47680.1																																																																																				0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	181	0	0	0	1	0	4	181				
ANK2	287	broad.mit.edu	37	4	114264269	114264269	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr4:114264269A>G	ENST00000357077.4	+	34	4272	c.4219A>G	c.(4219-4221)Aaa>Gaa	p.K1407E	ANK2_ENST00000509550.1_Missense_Mutation_p.K583E|ANK2_ENST00000506722.1_Missense_Mutation_p.K1398E|ANK2_ENST00000264366.6_Missense_Mutation_p.K1374E|ANK2_ENST00000394537.3_Missense_Mutation_p.K1407E|ANK2_ENST00000510275.2_Missense_Mutation_p.K59E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1407	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTTGCCTTCAAAGAAAATAG	0.338																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4219-4221)Aaa>Gaa		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							136.0	133.0	134.0					4																	114264269		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114264269A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4219A>G	4.37:g.114264269A>G	ENSP00000349588:p.Lys1407Glu		Somatic				ANK2_uc003ibd.4_Missense_Mutation_p.K1398E|ANK2_uc003ibf.4_Missense_Mutation_p.K1407E|ANK2_uc011cgc.2_Missense_Mutation_p.K583E|ANK2_uc003ibg.4_Missense_Mutation_p.K402E|ANK2_uc003ibh.4_Missense_Mutation_p.K81E|ANK2_uc011cgb.1_Missense_Mutation_p.K1422E	p.K1407E	NM_001148	NP_001139	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	33	4319	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1374					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4219A>G	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.2|28.2	4.898025|4.898025	0.91962|0.91962	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275|ENST00000514960	T;T;T;T;T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.71533|0.71533	0.3351|0.3351	M|M	0.63428|0.63428	1.95|1.95	0.49389|0.49389	D|D	0.999782|0.999782	D;D;P;D;D;D;D|.	0.89917|.	0.997;0.998;0.725;0.999;0.993;1.0;0.997|.	D;D;P;D;D;D;D|.	0.91635|.	0.914;0.993;0.544;0.993;0.987;0.999;0.978|.	T|T	0.70781|0.70781	-0.4779|-0.4779	10|5	0.87932|.	D|.	0|.	.|.	15.6089|15.6089	0.76699|0.76699	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	583;1374;453;419;1407;1407;1398|.	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.;.|.	E|R	1320;1398;453;1422;1407;1407;1374;1398;583;59|419	ENSP00000421011:K1320E;ENSP00000421067:K1398E;ENSP00000424722:K1422E;ENSP00000378044:K1407E;ENSP00000349588:K1407E;ENSP00000264366:K1374E;ENSP00000426944:K583E;ENSP00000421023:K59E|.	ENSP00000264366:K1374E|.	K|Q	+|+	1|2	0|0	ANK2|ANK2	114483718|114483718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.306000|7.306000	0.78905|0.78905	2.082000|2.082000	0.62665|0.62665	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	46	0	0	0	1	0	30	46				
MFSD6L	162387	broad.mit.edu	37	17	8701591	8701591	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:8701591C>G	ENST00000329805.4	-	1	1076	c.848G>C	c.(847-849)cGa>cCa	p.R283P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	283						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCTTCTGTATCGGTCAGTGGC	0.592																																						uc002glp.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(847-849)cGa>cCa		Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.							62.0	60.0	61.0					17																	8701591		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8701591C>G	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.848G>C	17.37:g.8701591C>G	ENSP00000330051:p.Arg283Pro		Somatic					p.R283P	NM_152599	NP_689812	WXS	Illumina GAIIx	Phase_I	Q8IWD5	MFS6L_HUMAN			0	1077	-			283					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.848G>C	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281563	0.40394	.	.	ENSG00000185156	ENST00000329805	D	0.87491	-2.26	4.93	2.96	0.34315	.	0.162291	0.37715	N	0.001974	D	0.90366	0.6985	M	0.69823	2.125	0.33536	D	0.594239	D	0.71674	0.998	D	0.68943	0.961	D	0.89694	0.3900	10	0.30854	T	0.27	-13.082	8.183	0.31322	0.0:0.7405:0.0:0.2595	.	283	Q8IWD5	MFS6L_HUMAN	P	283	ENSP00000330051:R283P	ENSP00000330051:R283P	R	-	2	0	MFSD6L	8642316	0.995000	0.38212	0.154000	0.22540	0.479000	0.33129	3.315000	0.51951	0.673000	0.31224	0.655000	0.94253	CGA		0.592	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		10	99	0	0	0	1	0	10	99				
DNAH1	25981	broad.mit.edu	37	3	52391973	52391973	+	Missense_Mutation	SNP	C	C	T	rs534895761		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr3:52391973C>T	ENST00000420323.2	+	24	4301	c.4040C>T	c.(4039-4041)aCg>aTg	p.T1347M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1347	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGGACCCCACGGCCGTGCAG	0.622																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4039-4041)aCg>aTg		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							33.0	38.0	36.0					3																	52391973		1988	4155	6143	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52391973C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4040C>T	3.37:g.52391973C>T	ENSP00000401514:p.Thr1347Met		Somatic					p.T1347M	NM_015512	NP_056327	WXS	Illumina GAIIx	Phase_I	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	23	4301	+			1347			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.4040C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623261	0.28889	.	.	ENSG00000114841	ENST00000420323	T	0.62105	0.05	4.98	3.2	0.36748	.	0.122511	0.36628	N	0.002499	T	0.74989	0.3789	M	0.82630	2.6	0.42239	D	0.991928	D	0.62365	0.991	P	0.61070	0.883	T	0.74705	-0.3575	10	0.45353	T	0.12	.	10.1136	0.42576	0.1366:0.792:0.0:0.0714	.	1347	C9JXH6	.	M	1347	ENSP00000401514:T1347M	ENSP00000401514:T1347M	T	+	2	0	DNAH1	52367013	0.293000	0.24371	0.945000	0.38365	0.021000	0.10359	0.949000	0.29109	0.540000	0.28808	-1.331000	0.01271	ACG		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		3	54	0	0	0	1	0	3	54				
CABP5	56344	broad.mit.edu	37	19	48537535	48537535	+	Missense_Mutation	SNP	G	G	A	rs367863199		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr19:48537535G>A	ENST00000293255.2	-	5	563	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	145	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GAGATCTCCCGGGGGGTGAGC	0.592																																						uc002phu.2																			0				endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.(433-435)Cgg>Tgg		Homo sapiens calcium binding protein 5 (CABP5), mRNA.		G	TRP/ARG	0,4406		0,0,2203	44.0	41.0	42.0		433	2.8	0.2	19		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	CABP5	NM_019855.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	145/174	48537535	1,13005	2203	4300	6503	SO:0001583	missense	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48537535G>A	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.433C>T	19.37:g.48537535G>A	ENSP00000293255:p.Arg145Trp		Somatic					p.R145W	NM_019855	NP_062829	WXS	Illumina GAIIx	Phase_I	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	4	565	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	145			EF-hand 4.		A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	c.433C>T	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494564	0.44352	0.0	1.16E-4	ENSG00000105507	ENST00000293255	T	0.71934	-0.61	5.01	2.84	0.33178	EF-hand-like domain (1);	0.270585	0.33309	N	0.005055	T	0.67915	0.2944	L	0.45352	1.415	0.09310	N	0.999998	D	0.65815	0.995	P	0.53266	0.722	T	0.59947	-0.7358	10	0.87932	D	0	-3.7414	6.2504	0.20842	0.0872:0.0:0.5861:0.3267	.	145	Q9NP86	CABP5_HUMAN	W	145	ENSP00000293255:R145W	ENSP00000293255:R145W	R	-	1	2	CABP5	53229347	0.005000	0.15991	0.187000	0.23214	0.776000	0.43924	1.559000	0.36320	0.627000	0.30340	-0.314000	0.08810	CGG		0.592	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		4	54	0	0	0	1	0	4	54				
PDZRN3	23024	broad.mit.edu	37	3	73453315	73453315	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr3:73453315A>G	ENST00000263666.4	-	4	1264	c.1150T>C	c.(1150-1152)Tat>Cat	p.Y384H	PDZRN3_ENST00000466780.1_Missense_Mutation_p.Y41H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.Y106H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Y101H|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.Y41H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	384					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCAAGAGATAGGGATCCAGC	0.458																																						uc003dpl.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1150-1152)Tat>Cat		Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.							118.0	105.0	109.0					3																	73453315		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73453315A>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1150T>C	3.37:g.73453315A>G	ENSP00000263666:p.Tyr384His		Somatic				PDZRN3_uc011bgh.1_Missense_Mutation_p.Y41H|PDZRN3_uc010hoe.1_Missense_Mutation_p.Y82H|PDZRN3_uc011bgf.1_Missense_Mutation_p.Y101H|PDZRN3_uc011bgg.1_Missense_Mutation_p.Y104H	p.Y384H	NM_015009	NP_055824	WXS	Illumina GAIIx	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	3	1246	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	384					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1150T>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843157	0.51057	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.11169	2.8;3.5;3.38;3.38;3.49;3.47	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.72894	2.215	0.53688	D	0.999979	B;D;D;D	0.89917	0.165;1.0;0.988;0.999	B;D;P;D	0.83275	0.121;0.996;0.862;0.996	T	0.01725	-1.1287	10	0.27082	T	0.32	.	16.2903	0.82747	1.0:0.0:0.0:0.0	.	106;101;101;384	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	384;106;41;41;101;384;82	ENSP00000263666:Y384H;ENSP00000442026:Y106H;ENSP00000418168:Y41H;ENSP00000418484:Y41H;ENSP00000418624:Y101H;ENSP00000419250:Y82H	ENSP00000263666:Y384H	Y	-	1	0	PDZRN3	73536005	1.000000	0.71417	0.973000	0.42090	0.699000	0.40488	5.199000	0.65152	2.326000	0.78906	0.533000	0.62120	TAT		0.458	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		3	96	0	0	0	1	0	3	96				
HSPA5	3309	broad.mit.edu	37	9	128001313	128001313	+	Silent	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr9:128001313A>G	ENST00000324460.6	-	5	1106	c.903T>C	c.(901-903)tcT>tcC	p.S301S	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	301					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CTTGATGCTGAGAAGACAGGG	0.458										Prostate(1;0.17)																												uc004bpn.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(901-903)tcT>tcC		Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	Antihemophilic Factor(DB00025)						69.0	69.0	69.0					9																	128001313		2203	4300	6503	SO:0001819	synonymous_variant	3309				ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001313A>G		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.903T>C	9.37:g.128001313A>G		Prostate(1;0.17)	Somatic					p.S301S	NM_005347	NP_005338	WXS	Illumina GAIIx	Phase_I	P11021	GRP78_HUMAN			4	1164	-			301					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.903T>C	CCDS6863.1																																																																																				0.458	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			34	28	0	0	0	1	0	34	28				
PLEKHG1	57480	broad.mit.edu	37	6	151161206	151161206	+	Missense_Mutation	SNP	C	C	T	rs139978019		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:151161206C>T	ENST00000358517.2	+	16	3543	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.T1111M			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1111							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGATATCCCACGTTTGAGATC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21802	0.001		0.0	False		,,,				2504	0.0					uc011eem.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(3508-3510)aCg>aTg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.							80.0	81.0	80.0					6																	151161206		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161206C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3332C>T	6.37:g.151161206C>T	ENSP00000351318:p.Thr1111Met		Somatic				PLEKHG1_uc003qny.1_Missense_Mutation_p.T1111M	p.T1170M	NM_001029884	NP_001025055	WXS	Illumina GAIIx	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	15	3597	+			1111					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.3509C>T	CCDS34552.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.774	0.327242	0.10900	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.59772	0.24;0.24	5.81	3.97	0.46021	.	0.732725	0.13537	N	0.380536	T	0.26085	0.0636	L	0.51422	1.61	0.09310	N	1	B;P	0.44309	0.005;0.832	B;B	0.36504	0.002;0.226	T	0.05616	-1.0874	10	0.33141	T	0.24	.	5.1128	0.14819	0.2546:0.5467:0.0:0.1987	.	918;1111	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	M	1111	ENSP00000356297:T1111M;ENSP00000351318:T1111M	ENSP00000351318:T1111M	T	+	2	0	PLEKHG1	151202899	0.000000	0.05858	0.407000	0.26434	0.596000	0.36781	0.788000	0.26872	1.462000	0.47948	0.655000	0.94253	ACG		0.483	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			35	47	0	0	0	1	0	35	47				
DYRK1B	9149	broad.mit.edu	37	19	40318195	40318195	+	Silent	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr19:40318195A>G	ENST00000593685.1	-	7	1377	c.909T>C	c.(907-909)ctT>ctC	p.L303L	DYRK1B_ENST00000323039.5_Silent_p.L303L|DYRK1B_ENST00000348817.3_Silent_p.L303L|DYRK1B_ENST00000597639.1_Silent_p.L303L|DYRK1B_ENST00000430012.2_Silent_p.L303L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCATCTCCACAAGGATGCAGC	0.627																																						uc002omj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(907-909)ctT>ctC		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.							61.0	55.0	57.0					19																	40318195		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318195A>G	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.909T>C	19.37:g.40318195A>G			Somatic				DYRK1B_uc002omi.3_Silent_p.L303L|DYRK1B_uc002omk.3_Silent_p.L303L	p.L303L	NM_004714	NP_004705	WXS	Illumina GAIIx	Phase_I	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	1189	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		303			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.909T>C	CCDS12543.1																																																																																				0.627	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	64	0	0	0	1	0	3	64				
COL5A1	1289	broad.mit.edu	37	9	137630645	137630645	+	Silent	SNP	T	T	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr9:137630645T>A	ENST00000371817.3	+	11	1899	c.1485T>A	c.(1483-1485)ccT>ccA	p.P495P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	495	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGGGACCCTGGAGAAAGGG	0.577																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1483-1485)ccT>ccA		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							75.0	77.0	76.0					9																	137630645		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137630645T>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1485T>A	9.37:g.137630645T>A			Somatic					p.P495P	NM_000093	NP_000084	WXS	Illumina GAIIx	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	10	1867	+		Myeloproliferative disorder(178;0.0341)	495			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1485T>A	CCDS6982.1																																																																																				0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	139	0	0	0	1	0	4	139				
MPV17L	255027	broad.mit.edu	37	16	15490060	15490060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr16:15490060delT	ENST00000396385.3	+	1	425	c.306delT	c.(304-306)tatfs	p.Y102fs	RP11-1021N1.1_ENST00000568222.1_Frame_Shift_Del_p.M85fs|MPV17L_ENST00000287594.7_Frame_Shift_Del_p.Y102fs	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	102					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						CGGCCTTCTATGTCGGTGAGG	0.721																																						uc002ddn.2																			0				kidney(2)|large_intestine(1)|skin(1)	4						c.(304-306)tatfs		Homo sapiens MPV17 mitochondrial membrane protein-like (MPV17L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							6.0	6.0	6.0					16																	15490060		2054	3962	6016	SO:0001589	frameshift_variant	255027					integral to membrane|peroxisomal membrane		g.chr16:15490060delT	DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.306delT	16.37:g.15490060delT	ENSP00000379669:p.Tyr102fs		Somatic				MPV17L_uc002ddm.2_Frame_Shift_Del_p.Y102fs	p.Y102fs	NM_001128423	NP_001121895	WXS	Illumina GAIIx	Phase_I	Q2QL34	MP17L_HUMAN			0	450	+			102					B4DDY1|Q6P7T6|Q8N8E9	Frame_Shift_Del	DEL	ENST00000396385.3	37	c.306delT	CCDS45421.1																																																																																				0.721	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803		2	4						2	4	---	---	---	---
